Newborn hearing screening in Utah: Past successes and future challengesBerkeley Electronic Press Selected WorksWhite, Karl RNewborn Hearing Screening in Utah: Past Successes & Future Challenges
Code developed for the variant database curation pipeline is available at https://github.com/eilbecklab/Utah-DOH-newborn-screening. References Bodian, D. L. et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet. ...
newbornscreeningprogramtestsfor morethan30rareandseriousdiseasesthat aretreatableifcaughtearlyinlife. Now,manypublichealthexpertswhohelp runoradvisetheprogramareworriedwhat thefutureholds.Anewlawshapedbyaco- alitionofprivacyadvocatesandconserva- tivepoliticiansrequiresconsentforfederally ...
In addition, some studies reported conducting “second-tier” (and sometimes “third-tier”) testing on the original DBS when the initial screening result was positive or inconclusive. These additional tests on the original DBS were considered part of the index test when calculating test accuracy ...
5. Newborn Screening for Cystinosis The implementation of genetic testing in NBS was undertaken in Utah in 1998 for the detection of sickle cell disease [73]. Molecular biological methods have since been introduced as first tier, second tier, or third tier methods in NBS [74]. Currently, ...
© American College of Medical Genetics and Genomics Review Open Newborn screening 50 years later: access issues faced by adults with PKU Susan A. Berry, MD1, Christine Brown, MS2, Mitzie Grant, PhD3, Carol L. Greene, MD4, Elaina Jurecki, MS, RD5, Jean Koch, BA6, Kathryn Moseley, ...
“It’s clear that if you’re born in one state, that state may be giving you more or less tests than the others,” says Brad Ferrell, a task force member and chairman of the National Newborn Screening and Genetic Resource Center in Austin, Texas. “People might legitimately ask their ...
Methodology of a multistate study of con- genital hearing loss: preliminary data from Utah newborn screening. Am J Med Genet 2004; 125C: 28-34.Dent KM, Kenneson A,-Palumbos JC, et al. Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn ...
Jeffrey R. Botkin is professor of pediatrics and associate vice president for research integrity at the University of UtahHastings Center ReportMoyer VA, Calonge N, Teutsch SM, Botkin JR. Expanding newborn screening: process, policy, and priorities. Hastings Cent Rep. 2008;38(3):32-39...
and second tier tests. The specific data of the latter group will not be discussed further in this study because they are not part of the primary screening by MS/MS. As of December 1, 2010, 5341 cutoff values (638 low and 4703 high, respectively) have been submitted by 113 participants...